[MIM 265 900]

Very rare. Autonomal recessive transmission of a mutation in the SFRP4 gene (7p14.1) Metaphyseal osseous dysplasia characterized by:

-        genu valgum

-        metaphyseal anomalies with enlargement of the diaphyses of the long bones, giving to the femur and tibia an appearance of Erlenmeyer flask; limitation of the extension of the elbow caused by the enlargement of the humerus

-        widening of the ribs and the clavicles,

-        platyspondyly (caused by primary or secondary osteoporosis) and cortical thinning

-        tall stature

The cranial involvement is usually minimal, but one can, occasionally, observe:

-        mild hyperostosis of the base of the skull which can lead to a gradual compression of some cranial nerves (progressive loss of vision, hearing)

-        thickening of the frontal and occipital bones

-        underdeveloped frontal sinuses with nasal obstruction.

Note: the Erlenmeyer flask-like deformation is also a characteristic feature of the autosomal dominant Braun-Tinschert type metaphyseal dysplasia. These two diseases are differentiated by their mode of transmission and the presence of a marked varus deformation of the distal part of the radius in case of Braun-Tinschert type metaphyseal dysplasia.

Anesthetic implications:

long bones deformation, fractures following minimal trauma

References :

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Updated: July 2019